Genomic research has made tremendous strides over the past decades, paving the way for breakthroughs in precision medicine. However, these advances have not benefited everyone equally. A glaring issue in this field is the systemic underrepresentation of certain populations, particularly indigenous groups from Latin America. In a recent talk at Queen Mary University of London’s PHURI, I had the opportunity to highlight the unique challenges and opportunities in addressing this disparity.

The global genomic research landscape has been dominated by studies focusing on populations of European ancestry. Leading repositories like PharmGKB—dedicated to gene-drug association data—exemplify this imbalance. While European and, to a lesser extent, Asian populations are reasonably represented, native populations from the Americas account for a minuscule fraction of the data. This disparity leaves indigenous communities underserved and their unique genetic profiles largely unexplored.

To understand why this underrepresentation matters, it’s essential to delve into the historical and geographical context of Latin America.

Our research seeks to bridge the gap in genomic representation by focusing on Peru’s indigenous communities. Through the analysis of 150 genomes from seven populations, we uncovered exciting findings:

One of the biggest challenges in advancing genomic research in Latin America is the lack of a coordinated framework. Unlike Africa, which has the H3Africa initiative—a Pan-African genomics consortium that secures international funding and fosters local research—Latin America lacks a similar structure. This limits the region’s ability to scale research efforts and fully capture its rich genetic diversity.

What could such an initiative achieve?

Collaboration with pharmaceutical companies can play a critical role in achieving these goals. In some regions, such partnerships are structured to ensure mutual benefit: companies gain access to valuable genetic data while investing in local research infrastructure. A similar model could be applied in Latin America, ensuring that profits from drug discoveries benefit the communities contributing their data.

The underrepresentation of indigenous populations in genomic research isn’t just an academic issue—it’s a question of equity and global health. Precision medicine aims to tailor treatments to the genetic makeup of individuals, but this cannot be achieved if vast swathes of humanity are left out of the equation. Indigenous communities in Latin America face unique health challenges, and understanding their genetic profiles could lead to breakthroughs in addressing these needs.

The genomic research community is at a pivotal moment. Awareness of the need for diversity in research has grown, creating a window of opportunity to correct historical imbalances. Latin America, with its rich and underexplored genetic heritage, is uniquely positioned to contribute to this effort.

By building a federated, inclusive approach to genomics, we can unlock the potential of indigenous populations—not only for their benefit but for the advancement of global health. The journey ahead is challenging, but the rewards promise to transform our understanding of humanity’s shared genetic legacy.